benign familial infantile seizures 1

Benign Familial Infantile Seizures (BFIS) Description

Benign familial infantile seizures, also known as BFIS, is a rare genetic epilepsy syndrome that affects healthy infants and young children. This condition is characterized by recurrent seizures in newborn babies, which begin around day 3-5 of life [2]. The seizures are typically brief and self-limiting, lasting only a few seconds to minutes.

Key Features:

• Recurrent seizures in newborn babies
• Seizures begin around day 3-5 of life
• Brief and self-limiting, lasting only a few seconds to minutes
• Typically no other health or developmental problems [9]

Symptoms During a Seizure:

During a seizure, symptoms may include jerking movements, turning the eyes or head to one side, staring straight ahead, and more [7]. These seizures are usually not accompanied by fever.

Inheritance Pattern: BFIS is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. This means that if one parent has the mutation, each child has a 50% chance of inheriting it [3].

Other Names:

• Benign familial neonatal seizures (BFNS)
• Self-limited infantile epilepsy (SeLIE)

Note: The information provided is based on search results and may not be an exhaustive or definitive description of BFIS.

Benign Familial Infantile Seizures: Signs and Symptoms

Benign familial infantile seizures (BFIS) are a type of epilepsy disorder that affects infants and young children. The condition is characterized by recurrent seizures, which can be triggered by various stimuli or occur spontaneously.

• Seizure onset: BFIS typically begins in the first year of life, with most cases occurring between 3 to 12 months of age [1].
• Seizure characteristics: Seizures associated with BFIS are usually brief and do not cause any long-term damage to the brain. They may be triggered by various stimuli, such as loud noises or bright lights, or occur spontaneously [2].
• Symptoms: Infants with BFIS may exhibit a range of symptoms, including:
  • Sudden stoppage of activity
  • Staring straight ahead or to one side
  • Turning their eyes or head to one side
  • Making unusual movements with their body [3]
• Duration and frequency: Seizures associated with BFIS are typically short-lived, lasting only a few seconds to minutes. They may occur frequently, but the exact frequency can vary from child to child [4].

It's essential to note that while BFIS is considered a benign condition, it's still crucial for parents or caregivers to seek medical attention if they suspect their infant is experiencing seizures. A healthcare professional can provide an accurate diagnosis and develop a treatment plan to manage the condition.

References: [1] Context result 3 [2] Context result 4 [3] Context result 6 [4] Context result 7

Diagnostic Tests for Benign Familial Infantile Seizures

Benign familial infantile epilepsy (BFIE) can be diagnosed through various tests, including:

• Genetic testing: This is the most effective means of diagnosing BFIE, especially when diagnostic criteria are unclear. Genetic testing can guide treatment and management decisions [3].
• Brain imaging studies: Computed tomography (CT) scanning or magnetic resonance imaging (MRI) may be performed to rule out other conditions that could cause seizures in infants [6].
• Sequencing reads analysis: A median per base sequence quality score above 30 (99.9% accurate) is required for sequencing reads, which can help confirm the diagnosis of BFIE [5].

Other Diagnostic Criteria

The diagnostic criteria for BFIE include:

• Unprovoked focal seizures with or without secondary generalization [7].
• Family history of similar seizures in the newborn and infant [1].
• Presence of SCN2A gene mutations, which are commonly associated with BFIE [4].

Specialist Referrals

Diagnostic teams for BFIE may include genetics, neurology, and other specialists to provide comprehensive care.

Treatment Options for Benign Familial Infantile Seizures

Benign familial infantile seizures, also known as benign familial neonatal epilepsy (BFNE), is a rare genetic disorder characterized by recurrent seizures in healthy infants. While the exact cause of BFNE is unknown, research has shown that certain medications can help manage and prevent seizures.

Medications Used to Treat Benign Familial Infantile Seizures

Several antiepileptic medications have been studied for their efficacy in treating BFNE. Some of these include:

• Carbamazepine: This medication has been listed as a first-line treatment option by the International League Against Epilepsy (ILAE) recommendations for managing benign infantile convulsions [5][6].
• Phenobarbital: Another medication that has been recommended by ILAE for treating BFNE, phenobarbital can help prevent seizures and reduce their frequency [5][6].
• Lacosamide: Studies have shown that lacosamide is effective in reducing seizure frequency in children with BFNE, particularly when used at low doses [7].
• Levetiracetam: This medication has also been studied for its efficacy in treating BFNE, and research suggests it may be a useful option for managing seizures in these patients [7].

Other Treatment Options

In addition to antiepileptic medications, other treatment options are being explored for BFNE. These include:

• Sodium-channel blocking medications: Research has shown that these medications can help prevent seizures in some cases of BFNE [1].
• Low-dose lacosamide: Studies have suggested that low doses of lacosamide may be effective in reducing seizure frequency in children with BFNE [7].

It's essential to note that each child with BFNE is unique, and the most effective treatment plan will depend on individual factors. Consultation with a healthcare professional is necessary to determine the best course of treatment for your child.

References:

[1] Oct 27, 2020 — Typically, treatment is initiated with anti-seizure medications. Depending on the specific genetic mutation, sodium-channel blocking medications may also be used [1].

[5][6] by JH Döring · 2022 · Cited by 11 — To date, the International League Against Epilepsy (ILAE) recommendations for the management of benign infantile convulsions list carbamazepine, phenobarbital, and other medications as treatment options [5][6].

[7] by S Numoto · 2021 · Cited by 5 — We examined the efficacy of antiseizure medications, including lacosamide and levetiracetam, in children with benign infantile epilepsy. Low-dose lacosamide was found to be effective in reducing seizure frequency [7].

Benign Familial Infantile Seizures (BFIS) Differential Diagnoses

Benign familial infantile seizures (BFIS) are a rare form of epilepsy that affects infants and young children. When diagnosing BFIS, it's essential to consider other differential diagnoses that may present with similar symptoms.

• Aseptic Meningitis: This condition can cause seizures in infants, but it is typically accompanied by fever, vomiting, and irritability [2].
• Frontal Lobe Epilepsy: This type of epilepsy can also cause seizures in young children, often with a focal onset [2].
• Infantile Epileptic Spasms Syndrome (West Syndrome): This condition is characterized by brief, shock-like seizures that occur in clusters, often accompanied by developmental delays and intellectual disability [3].
• Intellectual Disability: Some cases of BFIS may be associated with intellectual disability, making it essential to consider this diagnosis when evaluating patients with seizures and developmental delays [2].

It's worth noting that the differential diagnosis for BFIS also includes other benign epilepsy syndromes, such as SeLIE (Severe Infantile Epilepsy), which is relatively common in infants under 2 years of age [10].